SNP Shot: Genomic Insights

Anonychia congenita is a rare disorder impacting the development of fingernails and toenails. Typically, those affected are born without any fingernails or toenails, a condition known as anonychia. This nail absence is present from birth (congenital). However, in some instances, individuals may only have a partial absence of the nail (hyponychia), or the condition might not affect all fingers and toes. Importantly, all other tissues at the fingertips and toes, including structures that usually support nail development like the nail bed, are otherwise normal.

People with anonychia congenita usually experience no other associated health issues.

Inheritance:

When anonychia congenita is caused by mutations in the RSPO4 gene, it follows an autosomal recessive inheritance pattern. This means that for an individual to be affected, both copies of the RSPO4 gene in each of their cells must carry the mutation. In autosomal recessive inheritance, each parent of an affected individual carries one copy of the mutated gene but generally does not exhibit symptoms or signs of the condition themselves.